Suchergebnisse - "EC 2.7.8.15"

PubPharm (202)

1

Early diagnostic clues of mucolipidosis type II : Significance of radiological findings

enthalten in: American journal of medical genetics. Part A | 2024

von Burgac, E. | Kaplan, �. | Köseci, B. | +9

2

Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction

enthalten in: Journal of medical genetics | 2024

von Zhou, N. | Zhao, Q. | Li, R. | +4

3

Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity

enthalten in: PLoS genetics | 2023

von Yu, M. | Ye, H. | De-Paula, R. | +12

4

Nε-Carboxymethyl-Lysine Mediates Vascular Calcification in Diabetes Caused by Impaired Osteoclastic Resorption Activity Through NFATc1-GNPTAB

enthalten in: Journal of cardiovascular translational research | 2023

von Zhang, L. | Wang, Z. | Sun, Z. | +3

5

Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins

enthalten in: Science (New York, N.Y.) | 2022

von Pechincha, C. | Groessl, S. | Kalis, R. | +15

6

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway

enthalten in: Nature communications | 2022

von Zhang, W. | Yang, X. | Li, Y. | +12

7

Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2022

von Gorelik, A. | Illes, K. | Bui, K. | +1

8

Identification and phylogenic analysis of Leishmania species among patients and reservoir hosts based on N-acetylglucosamine-1-phosphate transferase gene in Central Iran

enthalten in: Annals of parasitology | 2022

von Farrokhi-Karibozorg, M. | Hajjaran, H. | Ghayour-Najafabadi, Z. | +3

9

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Di Lorenzo, G. | Westermann, L. | Yorgan, T. | +29

10

Mucolipidosis type II and type III : a systematic review of 843 published cases

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Dogterom, E. | Wagenmakers, M. | Wilke, M. | +7

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